Varaico: Literature-Extracted Genetic Variants

Gene:TBX20
Variant:p.F256I
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TBX20

NM_001077653.2:p.F256I

Associated Papers

Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.

Micolonghi C et al.

International Journal of Molecular Sciences, 2024

Formation of a TBX20-CASZ1 protein complex is protective against dilated cardiomyopathy and critical for cardiac homeostasis.

Kennedy L et al.

Plos Genetics, 2017

An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations.

Li YJ et al.

Expert Review of Molecular Diagnostics, 2017

A novel TBX20 loss‑of‑function mutation contributes to adult‑onset dilated cardiomyopathy or congenital atrial septal defect.

Zhou YM et al.

Molecular Medicine Reports, 2016

TBX20 loss-of-function mutation associated with familial dilated cardiomyopathy.

Zhao CM et al.

Clinical Chemistry and Laboratory Medicine, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."